Titin - CISMeF

Preferred Label : Titin;

NCIt synonyms : Connectin; EC 2.7.11.1; Rhabdomyosarcoma antigen MU-RMS-40.14; TTN;

NCIt definition : Titin (34350 aa, 3816 kDa) is encoded by the human TTN gene. This protein plays a role in muscle filament structure and contraction.;

Alternative definition : CDISC: An antigen encoded by the TTN gene and is involved in muscle filament structure and contraction. It can be considered as an autoantigen and is commonly associated with the autoimmune disease myasthenia gravis.;

Details

Origin ID

C101758;

UMLS CUI

C3711784;

Automatic exact mappings (from CISMeF team)
- Titin [OMIM gene]
- Transient tachypnoea of newborn [ICD-11 Subcategory]
- connectin [MeSH Descriptor]
- connectin [MeSH concept]
- titin [ORDO Gene]
- titin [HGNC gene]
Currated CISMeF NLP mapping
- Titin [FMA entity]
- Titin [LOINC component]
- titin kinase [MeSH concept]
OMIM relation
- Titin [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- TTN protein, human [MeSH concept]
- TTN protein, human [MeSH Supplementary Concept]
concept_is_in_subset
- CDISC SDTM Binding Agent for Immunogenicity Tests Terminology [NCIt concept]
- CDISC SDTM Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]
gene_encodes_gene_product
- Cytoskeletal Gene [NCIt concept]
- Enzyme Gene [NCIt concept]
- Phosphotransferase Gene [NCIt concept]
- Serine/Threonine Protein Kinase Gene [NCIt concept]
- Structural Protein Gene [NCIt concept]
- TTN Gene [NCIt concept]
- Transferase Gene [NCIt concept]
gene_product_expressed_in_tissue
- Muscle Tissue [NCIt concept]
gene_product_has_associated_anatomy
- Cytoskeleton [NCIt concept]
- Mitotic Chromosome [NCIt concept]
- Sarcomere [NCIt concept]
- Thin Filament [NCIt concept]
gene_product_has_biochemical_function
- Kinase [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
- WD Repeat [NCIt concept]
gene_product_is_element_in_pathway
- Dilated Cardiomyopathy Pathway [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell Movement Process [NCIt concept]
- Chromosome Condensation [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Muscle Contraction [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Platelet Activation [NCIt concept]
- Protein Phosphorylation Process [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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